Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content of these CNVs for enrichment in pathways of pathogenesis. Several important findings emerged. First, the gene content was enriched for the gene regulatory network involved in ventral forebrain development.

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function / Paciorkowski AR; Thio LL; Rosenfeld JA; Gajecka M; Gurnett CA; Kulkarni S; Chung WK; Marsh ED; Gentile M; Reggin JD; Wheless JW; Balasubramanian S; Kumar R; Christian SL; Marini C; Guerrini R; Maltsev N; Shaffer LG; Dobyns WB.. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - 19(12):(2011), pp. 1238-1245. [10.1038/ejhg.2011.121]

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

Marini C;GUERRINI, RENZO;
2011

Abstract

Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content of these CNVs for enrichment in pathways of pathogenesis. Several important findings emerged. First, the gene content was enriched for the gene regulatory network involved in ventral forebrain development.
2011
19(12)
1238
1245
Paciorkowski AR; Thio LL; Rosenfeld JA; Gajecka M; Gurnett CA; Kulkarni S; Chung WK; Marsh ED; Gentile M; Reggin JD; Wheless JW; Balasubramanian S; Kumar R; Christian SL; Marini C; Guerrini R; Maltsev N; Shaffer LG; Dobyns WB.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/606349
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